Genomic variant #0001136404

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.95546226G>C
Reference Copied from the Exome Variant Server
DB-ID CEP57_000024
Frequency 76/12998
Freq. EA 73/8596
Freq. AA 3/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP57 NM_014679.4 ?/? c.333G>C r.(?) p.(Gln111His)